Pulmonary Arterial Hypertension KnowledgeBase (bioinfom_tsdb)
bioinfom_tsdb
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

6924

Name

TCEB3

Synonymous

transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A);TCEB3;transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)

Definition

RNA polymerase II transcription factor SIII subunit A1|elongin 110 kDa subunit|elongin-A|transcription elongation factor B alpha subunit|transcription elongation factor B polypeptide 3

Position

1p36.1

Gene Type

protein-coding

Mutation summary:

Mutations in domains
Mutational pattern in 17 major cancer types
LoF vs missense mutations
All the copy number variations from COSMIC database V72
All the mutations from COSMIC database V72

Mutation summary in protein domains

Top

We used uniprot protein structure data from ensemble BioMart database. The size of circle shows the relative mutation number.

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Top

The non-synonymous mutational pattern in 17 major cancer types.
The synonymous mutational pattern in 17 major cancer types.

Loss of Function mutations compare to missense mutations

Top

Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.21.

The copy number variations for various cancers

Top

The copy number variations in 17 major cancer groups: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; NS, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

COSMIC somatic mutation [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.239G>A; p.R80Q; 1:23749948-23749948

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.248A>G; p.E83G; 1:23750853-23750853

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1635C>T; p.L545L; 1:23754197-23754197

 skinmalignant_melanomaSubstitution - coding silent

c.1698C>T; p.I566I; 1:23754367-23754367

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1595C>T; p.S532F; 1:23754157-23754157

 skinmalignant_melanomaSubstitution - Missense

c.2295C>T; p.F765F; 1:23759549-23759549

 breastcarcinomaSubstitution - coding silent

c.2084+2T>A; p.?; 1:23756387-23756387

 oesophaguscarcinoma; squamous_cell_carcinomaUnknown

c.827C>T; p.S276F; 1:23751432-23751432

 skinmalignant_melanomaSubstitution - Missense

c.1875G>A; p.S625S; 1:23755926-23755926

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1024A>C; p.K342Q; 1:23751629-23751629

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1117G>C; p.E373Q; 1:23751722-23751722

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1117G>C; p.E373Q; 1:23751722-23751722

 lungcarcinoma; bronchioloalveolar_adenocarcinomaSubstitution - Missense

c.1585A>C; p.R529R; 1:23754147-23754147

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.415C>A; p.L139I; 1:23751020-23751020

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2008G>A; p.A670T; 1:23756309-23756309

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1690G>A; p.D564N; 1:23754252-23754252

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1586G>A; p.R529K; 1:23754148-23754148

 central_nervous_system; braingliomaSubstitution - Missense

c.1747A>T; p.R583W; 1:23754416-23754416

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.109C>T; p.P37S; 1:23749054-23749054

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.950C>G; p.S317*; 1:23751555-23751555

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.1309delA; p.N439fs*19; 1:23751914-23751914

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1309delA; p.N439fs*19; 1:23751914-23751914

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1309delA; p.N439fs*19; 1:23751914-23751914

 stomachadenocarcinomaDeletion - Frameshift

c.1309delA; p.N439fs*19; 1:23751914-23751914

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1309delA; p.N439fs*19; 1:23751914-23751914

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1309delA; p.N439fs*19; 1:23751914-23751914

 large_intestine; rectumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1309delA; p.N439fs*19; 1:23751914-23751914

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1309delA; p.N439fs*19; 1:23751914-23751914

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1309delA; p.N439fs*19; 1:23751914-23751914

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1309delA; p.N439fs*19; 1:23751914-23751914

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1309delA; p.N439fs*19; 1:23751914-23751914

 large_intestine; rectumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1309delA; p.N439fs*19; 1:23751914-23751914

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1309delA; p.N439fs*19; 1:23751914-23751914

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1309delA; p.N439fs*19; 1:23751914-23751914

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1309delA; p.N439fs*19; 1:23751914-23751914

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1309delA; p.N439fs*19; 1:23751914-23751914

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.1309delA; p.N439fs*19; 1:23751914-23751914

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1309delA; p.N439fs*19; 1:23751914-23751914

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1309delA; p.N439fs*19; 1:23751914-23751914

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1309delA; p.N439fs*19; 1:23751914-23751914

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1309delA; p.N439fs*19; 1:23751914-23751914

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1309delA; p.N439fs*19; 1:23751914-23751914

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1309delA; p.N439fs*19; 1:23751914-23751914

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1309delA; p.N439fs*19; 1:23751914-23751914

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1309delA; p.N439fs*19; 1:23751914-23751914

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.1309delA; p.N439fs*19; 1:23751914-23751914

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.2314C>T; p.R772*; 1:23759568-23759568

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1216T>A; p.S406T; 1:23751821-23751821

 lung; middle_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1515C>A; p.S505S; 1:23752496-23752496

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1996G>A; p.V666I; 1:23756297-23756297

 breastcarcinomaSubstitution - Missense

c.2304A>C; p.R768S; 1:23759558-23759558

 breastcarcinomaSubstitution - Missense

c.1322C>T; p.S441F; 1:23751927-23751927

 skinmalignant_melanomaSubstitution - Missense

c.1670G>C; p.R557P; 1:23754232-23754232

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.80T>C; p.L27S; 1:23749025-23749025

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2100G>A; p.P700P; 1:23756968-23756968

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1889A>G; p.Y630C; 1:23755940-23755940

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2233G>T; p.D745Y; 1:23757101-23757101

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.1470G>A; p.A490A; 1:23752451-23752451

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2076G>A; p.E692E; 1:23756377-23756377

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.575A>T; p.D192V; 1:23751180-23751180

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.2121T>C; p.H707H; 1:23756989-23756989

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.417C>T; p.L139L; 1:23751022-23751022

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.698_699CC>TT; p.P233L; 1:23751303-23751304

 skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.417C>T; p.L139L; 1:23751022-23751022

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1088A>G; p.E363G; 1:23751693-23751693

 breastcarcinomaSubstitution - Missense

c.2050G>A; p.G684R; 1:23756351-23756351

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.357G>A; p.T119T; 1:23750962-23750962

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.784A>G; p.K262E; 1:23751389-23751389

 pancreascarcinomaSubstitution - Missense

c.784A>G; p.K262E; 1:23751389-23751389

 pancreascarcinomaSubstitution - Missense

c.784A>G; p.K262E; 1:23751389-23751389

 pancreascarcinomaSubstitution - Missense

c.784A>G; p.K262E; 1:23751389-23751389

 pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.2252T>C; p.V751A; 1:23757120-23757120

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2020C>T; p.R674C; 1:23756321-23756321

 skinmalignant_melanomaSubstitution - Missense

c.2020C>T; p.R674C; 1:23756321-23756321

 oesophaguscarcinomaSubstitution - Missense

c.2020C>T; p.R674C; 1:23756321-23756321

 ovarycarcinomaSubstitution - Missense

c.2028_2029CC>TT; p.R677W; 1:23756329-23756330

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.729G>A; p.K243K; 1:23751334-23751334

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.93G>A; p.K31K; 1:23749038-23749038

 breastcarcinomaSubstitution - coding silent

c.2110G>T; p.G704*; 1:23756978-23756978

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1018delA; p.S341fs*21; 1:23751623-23751623

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1018delA; p.S341fs*21; 1:23751623-23751623

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.832_834delGAG; p.E279delE; 1:23751437-23751439

 endometriumcarcinoma; endometrioid_carcinomaDeletion - In frame

c.1075_1076insC; p.K360fs*8; 1:23751680-23751681

 breastcarcinomaInsertion - Frameshift

c.832_834delGAG; p.E279delE; 1:23751437-23751439

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - In frame

c.293C>A; p.P98H; 1:23750898-23750898

 livercarcinomaSubstitution - Missense

c.293C>A; p.P98H; 1:23750898-23750898

 livercarcinomaSubstitution - Missense

c.308_310delAGA; p.K104delK; 1:23750913-23750915

 skin; head_neckcarcinoma; squamous_cell_carcinomaDeletion - In frame

c.290G>A; p.R97H; 1:23750895-23750895

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.317A>C; p.E106A; 1:23750922-23750922

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.518A>C; p.D173A; 1:23751123-23751123

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.283C>T; p.R95*; 1:23750888-23750888

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1074_1075insC; p.K360fs*8; 1:23751679-23751680

 breastcarcinomaInsertion - Frameshift

c.402G>C; p.R134S; 1:23751007-23751007

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.709G>A; p.G237R; 1:23751314-23751314

 skinmalignant_melanomaSubstitution - Missense

c.1565A>C; p.E522A; 1:23754127-23754127

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.2157T>C; p.P719P; 1:23757025-23757025

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1354C>T; p.Q452*; 1:23751959-23751959

 thyroidcarcinomaSubstitution - Nonsense

c.131C>T; p.A44V; 1:23749076-23749076

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.841C>T; p.R281*; 1:23751446-23751446

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.2054C>T; p.T685M; 1:23756355-23756355

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1737C>T; p.P579P; 1:23754406-23754406

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1772G>A; p.R591H; 1:23754441-23754441

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.481A>G; p.M161V; 1:23751086-23751086

 breastcarcinomaSubstitution - Missense

c.907G>T; p.D303Y; 1:23751512-23751512

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1426-1G>T; p.?; 1:23752406-23752406

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.1924C>T; p.R642*; 1:23755975-23755975

 prostatecarcinomaSubstitution - Nonsense

c.1972_1972+1insGT; p.R659fs*94; 1:23756023-23756024

 large_intestine; caecumcarcinoma; adenocarcinomaUnknown

c.1421G>T; p.R474I; 1:23752026-23752026

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.920G>T; p.S307I; 1:23751525-23751525

 livercarcinomaSubstitution - Missense

c.494A>G; p.Y165C; 1:23751099-23751099

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2263_2264insC; p.M757fs*7; 1:23759517-23759518

 skinmalignant_melanomaInsertion - Frameshift

c.1249C>T; p.R417W; 1:23751854-23751854

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.416T>C; p.L139P; 1:23751021-23751021

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.311_313delAGG; p.E107delE; 1:23750916-23750918

 ovarycarcinoma; serous_carcinomaDeletion - In frame

c.1895G>A; p.R632Q; 1:23755946-23755946

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1328G>T; p.S443I; 1:23751933-23751933

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.1973-3C>A; p.?; 1:23756271-23756271

 oesophaguscarcinoma; squamous_cell_carcinomaUnknown

c.1394C>T; p.P465L; 1:23751999-23751999

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.927_929delGAA; p.K312delK; 1:23751532-23751534

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.1918C>T; p.R640W; 1:23755969-23755969

 breastcarcinomaSubstitution - Missense

c.927_929delGAA; p.K312delK; 1:23751532-23751534

 large_intestine; rectumcarcinoma; adenocarcinomaDeletion - In frame

c.307C>T; p.Q103*; 1:23750912-23750912

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1689C>T; p.I563I; 1:23754251-23754251

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1713A>G; p.G571G; 1:23754382-23754382

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1186_1239del54; p.M396_Y413del18; 1:23751791-23751844

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaDeletion - In frame

c.1561G>T; p.E521*; 1:23754123-23754123

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Nonsense

c.1200C>T; p.F400F; 1:23751805-23751805

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1200C>T; p.F400F; 1:23751805-23751805

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1200C>T; p.F400F; 1:23751805-23751805

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.617C>T; p.S206L; 1:23751222-23751222

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.788_803del16; p.A263fs*31; 1:23751393-23751408

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaDeletion - Frameshift

c.574G>A; p.D192N; 1:23751179-23751179

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1287G>A; p.T429T; 1:23751892-23751892

 breastcarcinomaSubstitution - coding silent

c.2266C>A; p.P756T; 1:23759520-23759520

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.863A>G; p.N288S; 1:23751468-23751468

 skin; upper_legmalignant_melanomaSubstitution - Missense

c.1750T>C; p.C584R; 1:23754419-23754419

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.889G>T; p.G297C; 1:23751494-23751494

 kidneyother; neoplasmSubstitution - Missense

c.2105C>A; p.P702H; 1:23756973-23756973

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1586G>T; p.R529I; 1:23754148-23754148

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.1562A>C; p.E521A; 1:23754124-23754124

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1678delA; p.N561fs*32; 1:23754240-23754240

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.408C>G; p.L136L; 1:23751013-23751013

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2158G>T; p.E720*; 1:23757026-23757026

 prostatecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1346A>G; p.D449G; 1:23751951-23751951

 pancreascarcinomaSubstitution - Missense

c.1114C>A; p.P372T; 1:23751719-23751719

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1694-1G>T; p.?; 1:23754362-23754362

 stomachcarcinoma; adenocarcinomaUnknown

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